Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors—in addition to MCAD mutations—involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.     

Contrasting stories on overcoming governance challenges: the implementation of the EU Water Framework Directive in the Netherlands

The European Union Water Framework Directive (WFD) has provided the European Member States with a range of interacting governance challenges. This article studies three of these (the need for new administrative arrangements, public participation, and the enforced strict time frame). It questions how these interacting governance challenges were addressed in implementing the WFD in the Netherlands – a particularly interesting country since the European Commission assesses its implementation process in relatively positive terms, while an in-depth study reported on in this article tells a contrasting story. Based on this study, the article concludes that especially the interaction effects between the governance challenges may help us to better understand the outcome of the WFD-implementation process, and to provide more suitable advice as to how to improve the implementation process in future rounds.     

Maintaining the Conservation Value of Shifting Cultivation Landscapes Requires Spatially Explicit Interventions

Fallow vegetation within landscapes dominated by shifting cultivation represents a woody species pool of critical importance with considerable potential for biodiversity conservation. Here, through the analysis of factors that influence the early stages of fallow vegetation regrowth in two contrasting forest margin landscapes in Southern Cameroon, we assessed the impact of current trends of land use intensification and expansion of the cultivated areas, upon the conservation potential of shifting cultivation landscapes. We combined the analysis of plot and landscape scale factors and identified a complex set of variables that influence fallow regrowth processes in particular the characteristics of the agricultural matrix and the distance from forest. Overall we observed a decline in the fallow species pool, with composition becoming increasingly dominated by species adapted to recurrent disturbance. It is clear that without intervention and if present intensification trends continue, the potential of fallow vegetation to contribute to biodiversity conservation declines because of a reduced capacity, (1) to recover forest vegetation with anything like its original species composition, (2) to connect less disturbed forest patches for forest dependent organisms. Strategies to combat biodiversity loss, including promotion of agroforestry practices and the increase of old secondary forest cover, will need not only to operate at a landscape scale but also to be spatially explicit, reflecting the spatial pattern of species reservoirs and dispersal strategies and human usage across landscapes.     

CO2-free paper?

Black liquor gasification–combined cycle (BLGCC) is a new technology that has the potential to increase electricity production of a chemical pulping mill. Increased electricity generation in combination with the potential to use biomass (e.g. bark, hog fuel) more efficiently can result in increased power output compared to the conventional Tomlinson-boiler. Because the BLGCC enables an integrated pulp and paper mill to produce excess power, it can offset electricity produced by power plants. This may lead to reduction of the net-CO₂ emissions. The impact of BLGCC to offset CO₂ emissions from the pulp and paper industry is studied. We focus on two different plant designs and compare the situation in Sweden and the US. The CO₂ emissions are studied as function of the share of recycled fibre used to make the paper. The study shows that under specific conditions the production of “CO₂-free paper” is possible. First, energy efficiency in pulp and paper mills needs to be improved to allow the export of sufficient power to offset emissions from fossil fuels used in boilers and other equipment. Secondly, the net-CO₂ emission per ton of paper depends strongly on the emission reduction credits for electricity export, and hence on the country or grid to which the paper mill is connected. Thirdly, supplemental use of biomass to replace fossil fuel inputs is important to reduce the overall emissions of the pulp and paper industry.